Orphanet: Molekulare Diagnostik des Lynch Syndroms MLH1 , MSH2 , MSH6 und PMS2 Gen
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Molecular diagnosis of Lynch syndrome (MLH1, MSH2, MSH6, and PMS2 genes)

  • Phone : +43 (0)512 9003 70531
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Last update: September 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (4)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

HNPCC (Hereditary non-polyposis colon cancer)
2016, 2018
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